Thyroid Dyshormonogenesis

Preferred Label : Thyroid Dyshormonogenesis;

NCIt related terms : Dyshormonogenesis;

Alternative definition : NICHD: A defect in any step of the biochemical pathway leading to production of thyroid hormones.;

NCI Metathesaurus CUI : CL496169;

Details

Origin ID

C121751;

UMLS CUI

C4273748;

Automatic exact mappings (from CISMeF team)
- Familial thyroid dyshormonogenesis [ORDO Disease]
Has associated anatomic sites
- Head and Neck [NCIt concept]
- Neck [NCIt concept]
- Thyroid Gland [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial dyshormonogenetic goiter (disorder) [SNOMED CT concept]
- Familial thyroid dyshormonogenesis (disorder) [SNOMED CT concept]
- Primary congenital hypothyroidism due to impaired hormone production [ICD-11 More detail]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Thyroid Gland Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Thyroid Gland [NCIt concept]

Keyword's position in hierarchy(ies) :

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